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Author

Pratibha Nair

Observed names: Nair, Pratibha, P. Nair
Observed institution: Centre for Arab Genomic Studies
ORCID: 0000-0002-1821-2496
Observed ORCID: 0000-0002-1821-2496
OpenAlex ID: A5089452796
Consanguinity and reproductive health among Arabs
2009 · Ghazi O Tadmouri, Pratibha Nair, et al. · Reproductive Health · 674
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Identification of a novel CTCF mutation responsible for syndromic intellectual disability – a case report
2017 · Fatma Bastaki, Pratibha Nair, et al. · BMC Medical Genetics · 41
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Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases
2018 · Pratibha Nair, Sandra Sabbagh, et al. · Molecular Genetics & Genomic Medicine · 35
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Single‐center experience of N‐linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs
2017 · Fatma Bastaki, Sami Bizzari, et al. · Annals of Human Genetics · 29
Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders
2021 · Sami Bizzari, Pratibha Nair, et al. · Genes · 25
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Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis
2016 · Pratibha Nair, Abdul Rezzak Hamzeh, et al. · Metabolic Brain Disease · 25
Association of HLA‐DQA1 and ‐ DQB1 alleles with type I diabetes in Arabs: a meta‐analyses
2015 · A. R. Hamzeh, P. Nair, et al. · Tissue Antigens · 24
Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2)
2018 · Tasneem Obeid, Abdul Rezzak Hamzeh, et al. · Metabolic Brain Disease · 23
Spectrum of genetic disorders and gene variants in the United Arab Emirates national population: insights from the CTGA database
2023 · Sami Bizzari, Pratibha Nair, et al. · Frontiers in Genetics · 21
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A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis–lymphedema–telangiectasia syndrome by Whole Exome Sequencing
2015 · Fatma Bastaki, Madiha Mohamed, et al. · Molecular and Cellular Probes · 19
Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3
2020 · Sami Bizzari, Lara El-Bazzal, et al. · European Journal of Medical Genetics · 15
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Meta-analyses of the association of HLA-DRB1 alleles with rheumatoid arthritis among Arabs
2016 · Sami Bizzari, Pratibha Nair, et al. · International Journal of Rheumatic Diseases · 15
Novel splice‐site mutation in WDR 62 revealed by whole‐exome sequencing in a S udanese family with primary microcephaly
2015 · Fatma Bastaki, Madiha Mohamed, et al. · Congenital Anomalies · 15
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COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants
2018 · Pratibha Nair, Maher Lama, et al. · Molecular Syndromology · 14
A Novel Variant in the Endothelin-Converting Enzyme-Like 1 (ECEL1) Gene in an Emirati Child
2017 · Abdul Rezzak Hamzeh, Pratibha Nair, et al. · Medical Principles and Practice · 14
A novel nonsense GPSM2 mutation in a Yemeni family underlying Chudley-McCullough syndrome
2016 · Abdul Rezzak Hamzeh, Pratibha Nair, et al. · European Journal of Medical Genetics · 14
The profile of HLA‐DRB1 alleles in Arabs with type 1 diabetes; meta‐analyses
2015 · A. R. Hamzeh, P. Nair, et al. · HLA · 14
Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI‐related genes from the United Arab Emirates
2017 · Fatma Bastaki, Madiha Mohamed, et al. · International Journal of Dermatology · 13
Novel SPG20 mutation in an extended family with Troyer syndrome
2017 · S. Bizzari, A. R. Hamzeh, et al. · Metabolic Brain Disease · 12
SOX11-related syndrome: report on a new case and review
2020 · Victor Wakim, Pratibha Nair, et al. · Clinical Dysmorphology · 11
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Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation
2016 · Pratibha Nair, Abdul Rezzak Hamzeh, et al. · American Journal of Medical Genetics Part A · 9
A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE
2017 · Abdul Rezzak Hamzeh, Fatima Saif, et al. · BMC Pediatrics · 8
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Identification of a Novel Homozygous INSR Variant in a Patient with Rabson-Mendenhall Syndrome from the United Arab Emirates
2016 · Fatma Bastaki, Pratibha Nair, et al. · Hormone Research in Paediatrics · 8
Genomics into Healthcare: The 5th Pan Arab Human Genetics Conference and 2013 Golden Helix Symposium
2014 · Paolo Fortina, Najib Al Khaja, et al. · Human Mutation · 8
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A novel missense mutation in ATRX uncovered in a Yemeni family leads to alpha-thalassemia/mental retardation syndrome without alpha-thalassemia
2016 · A. R. Hamzeh, P. Nair, et al. · Irish Journal of Medical Science (1971 -) · 7
Works count: 47
Citation count: 1,134
H-index: 14
I10-index: 20
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